NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) AND Stickler syndrome type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246366.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)]
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024